A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020544



Internal ID19109763
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:101327634..101485143hg38UCSC Ensembl
Innerchr7:100970915..101128424hg19UCSC Ensembl
Innerchr7:100757635..100915144hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38157510
hg19157510
hg18157510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6537n100
Supporting Variantsnssv3656093, nssv3656094
Samples
Known GenesCOL26A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020544
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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